Document Detail

Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias.
MedLine Citation:
PMID:  8134166     Owner:  NLM     Status:  MEDLINE    
A stable-isotope dilution assay has been developed for quantitation of D- and L-2-hydroxyglutaric acids in physiologic fluids. D- and L-2-hydroxyglutaric acids are separated as the O-acetyl-di-(D)-2-butyl esters. The method uses D,L-[3,3,4,4-2H4]-2-hydroxyglutaric acid as internal standard with ammonia chemical ionization, selected ion monitoring gas chromatography-mass spectrometry. For 13 patients with L-2-hydroxyglutaric aciduria, the concentrations of L-2-hydroxyglutaric acid were urine, 1283 +/- 676 mmol/mol creatinine (range, 332-2742; n = 12 patients); plasma, 47 +/- 13 mumol/L (range, 27-62; n = 8); cerebrospinal fluid, 62 +/- 30 mumol/L (range, 34-100; n = 6). In a child with D-2-hydroxyglutaric aciduria, the levels of D-2-hydroxyglutaric acid were urine, 1565 +/- 847 mmol/mol creatinine (range, 729-2668; n = 4); plasma, 61 +/- 14 mumol/L (range, 46-73; n = 3); cerebrospinal fluid, 15 and 25 mumol/L (n = 2). Control concentrations of D- and L-2-hydroxyglutaric acids were (D:L): urine (n = 18), 6.0 +/- 3.6 mmol/mol creatinine (range, 2.8-17): 6.0 +/- 5.4 (range, 1.3-19); plasma (n = 10), 0.7 +/- 0.2 mumol/L (range, 0.3-0.9): 0.6 +/- 0.2 (range, 0.5-1.0); cerebrospinal fluid (n = 10), 0.1 +/- 0.1 mumol/L (range, 0.07-0.3): 0.7 +/- 0.6 (range, 0.3-2.3). Investigation of control amniotic fluid (n = 10) revealed the following values (D:L): 1.2 +/- 0.4 mumol/L (range, 0.6-1.8): 4.0 +/- 0.7 (range, 3.1-5.2), suggesting the feasibility of prenatal diagnosis in families at risk.
K M Gibson; H J ten Brink; D S Schor; R M Kok; A H Bootsma; G F Hoffmann; C Jakobs
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric research     Volume:  34     ISSN:  0031-3998     ISO Abbreviation:  Pediatr. Res.     Publication Date:  1993 Sep 
Date Detail:
Created Date:  1994-04-18     Completed Date:  1994-04-18     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0100714     Medline TA:  Pediatr Res     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  277-80     Citation Subset:  IM    
Department of Pediatrics, Free University Hospital, Amsterdam, The Netherlands.
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MeSH Terms
Acyl-CoA Dehydrogenase
Body Fluids / chemistry*
Fatty Acid Desaturases / deficiency*
Fetal Diseases / diagnosis*
Glutarates / analysis*,  chemistry
Indicator Dilution Techniques*
Mental Retardation / diagnosis,  embryology
Metabolism, Inborn Errors / diagnosis*,  embryology
Molecular Structure
Prenatal Diagnosis / methods*
Reg. No./Substance:
0/Glutarates; 2889-31-8/alpha-hydroxyglutarate; 7782-39-0/Deuterium; EC 1.14.19.-/Fatty Acid Desaturases; EC Dehydrogenase

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